Long-term outcomes of adults with features of VACTERL association

Abstract

VACTERL association involves the presence of specific congenital, multi-organ malformations that tend to co-occur. Clinical and research efforts typically center on pediatric patients, and there is a scarcity of information in the literature regarding VACTERL-related issues and outcomes in adulthood. We describe here 11 adults with features of VACTERL association ascertained through our research study on the condition. In our cohort of adult patients, approximately 25% of medically significant malformations that are component features of VACTERL association, including 40% of vertebral, 50% of cardiac, and 50% of renal anomalies, were not identified during childhood. Additionally, medical sequelae of many of the primary malformations identified in infancy or early childhood persist or are first reported in adulthood. These sequelae can involve challenging medical and surgical management in adulthood. As most adults with VACTERL association are not specifically followed for VACTERL-related issues, a more uniform diagnostic work-up and a low threshold for investigation of medical sequelae of the primary disorder may enhance the quality of clinical management in these patients.

Figure 1. Radiographic images of selected patients

These images, of various patients described in section 3.2 of the text, show their malformations attributed to VACTERL association. (a–b) Sagittal CT sections of Patient 1, a 64-year-old male with severe back pain, showing degenerative disc changes related to relatively mild congenital vertebral malformations. The most severely affected areas are indicated with arrows. (c) X-ray (anterior-posterior view) of Patient 2, a 35-year-old female with neck, shoulder, and back pain, demonstrating cervical scoliosis and moderate degenerative arthritis at the C6-C7 level with degenerative disc narrowing. Costovertebral anomalies in Patient 2 were unknown until X-rays were performed in adulthood after an unrelated accident. (d) X-ray (anterior-posterior view) of Patient 2, demonstrating thoracolumbar scoliosis. (e) Coronal MR section of Patient 5, a 28-year-old male with progressive back pain, showing complex vertebral malformations, including scoliosis, multilevel ankylosis, block vertebrae, and hemivertebrae. (f) X-ray image (lateral view) of barium swallow in Patient 6, a 28-year-old female with reduced esophageal motility and gastroesophageal reflux, demonstrates terminal esophageal narrowing (arrow) consistent with mild early achalasia as well as minimal deformity due to prior TEF repair procedure. (g) Sagittal MR section of Patient 7, a 52-year-old male, displaying congenital cervical spine anomalies accompanied by degenerative changes, including posterior fusion of C3-C4 and C5 and congenital block vertebrae at C6-C7 (indicated by the arrow). (h) Axial CT section of Patient 7 demonstrating the presence of a horseshoe kidney (indicated by the arrow); this patient had normal renal function but a history of nephrolithiasis and urinary tract infections possibly related to congenital rectal anomalies.